Pulmonary alveolar proteinosis, congenital

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Congenital Pulmonary Alveolar Proteinosis
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Synonyms
Pronounce
Specialty	Pulmonology, Pediatrics
Symptoms	Difficulty breathing, cough, cyanosis
Complications	Respiratory failure, infections
Onset	At birth or early infancy
Duration
Types
Causes	Genetic mutations
Risks	Family history
Diagnosis	Chest X-ray, CT scan, lung biopsy
Differential diagnosis	Respiratory distress syndrome, Interstitial lung disease
Prevention
Treatment	Lung lavage, Lung transplantation
Medication
Prognosis	Variable
Frequency	Rare
Deaths

Congenital Pulmonary Alveolar Proteinosis (CPAP) is a rare lung disorder characterized by the accumulation of proteinaceous material within the alveoli, the tiny air sacs in the lungs. This condition is present at birth or develops in early infancy and is a form of pulmonary alveolar proteinosis specifically caused by genetic mutations.

Symptoms and Signs

The primary symptoms of CPAP include difficulty breathing, cough, and cyanosis (a bluish discoloration of the skin due to lack of oxygen). These symptoms result from the impaired gas exchange caused by the accumulation of proteinaceous material in the alveoli.

Causes

CPAP is primarily caused by mutations in genes responsible for the regulation of surfactant production or function. Surfactant is a substance that lowers the surface tension within the alveoli, preventing their collapse and facilitating gas exchange. Mutations in the CSF2RA gene or other related genes can lead to the development of CPAP.

Diagnosis

Diagnosis of CPAP involves imaging techniques such as Chest X-ray and CT scan, which can reveal the characteristic patterns of protein accumulation in the lungs. A definitive diagnosis may require a lung biopsy, where a small tissue sample is examined under a microscope.

Treatment

Treatment options for CPAP include whole lung lavage, a procedure to wash out the accumulated material from the lungs, and in severe cases, Lung transplantation. Management of the condition may also involve supportive care to address symptoms and prevent complications.

Prognosis

The prognosis for individuals with CPAG varies. Some may experience significant improvement with treatment, while others may have a progressive decline in lung function leading to respiratory failure.

See Also

• Pulmonary alveolar proteinosis
• Surfactant metabolism dysfunction
• Lung transplantation

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